These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
148 related articles for article (PubMed ID: 28986452)
1. Care in Specialized Centers and Data Sharing Increase Agreement in Hypertrophic Cardiomyopathy Genetic Test Interpretation. Furqan A; Arscott P; Girolami F; Cirino AL; Michels M; Day SM; Olivotto I; Ho CY; Ashley E; Green EM; Caleshu C; Circ Cardiovasc Genet; 2017 Oct; 10(5):. PubMed ID: 28986452 [TBL] [Abstract][Full Text] [Related]
2. Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience. Bland A; Harrington EA; Dunn K; Pariani M; Platt JCK; Grove ME; Caleshu C Genet Med; 2018 Mar; 20(3):369-373. PubMed ID: 29240077 [TBL] [Abstract][Full Text] [Related]
3. Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory. Gradishar W; Johnson K; Brown K; Mundt E; Manley S Oncologist; 2017 Jul; 22(7):797-803. PubMed ID: 28408614 [TBL] [Abstract][Full Text] [Related]
4. Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository. Mighton C; Smith AC; Mayers J; Tomaszewski R; Taylor S; Hume S; Agatep R; Spriggs E; Feilotter HE; Semenuk L; Wong H; Lazo de la Vega L; Marshall CR; Axford MM; Silver T; Charames GS; Di Gioacchino V; Watkins N; Foulkes WD; Clavier M; Hamel N; Chong G; Lamont RE; Parboosingh J; Karsan A; Bosdet I; Young SS; Tucker T; Akbari MR; Speevak MD; Vaags AK; Lebo MS; Lerner-Ellis J; J Med Genet; 2022 Jun; 59(6):571-578. PubMed ID: 33875564 [TBL] [Abstract][Full Text] [Related]
5. Influence of centre expertise on the diagnosis and management of hypertrophic cardiomyopathy: A study from the French register of hypertrophic cardiomyopathy (REMY). Mirabel M; Damy T; Donal E; Huttin O; Labombarda F; Eicher JC; Cervino C; Laurito M; Offredo L; Tafflet M; Jouven X; Giura G; Desnos M; Jeunemaître X; Empana JP; Charron P; Habib G; Réant P; Hagège A; Int J Cardiol; 2019 Jan; 275():107-113. PubMed ID: 30316646 [TBL] [Abstract][Full Text] [Related]
6. Genetic characterization and genotype-phenotype associations in a large cohort of patients with hypertrophic cardiomyopathy - An ancillary study of the Portuguese registry of hypertrophic cardiomyopathy. Lopes LR; Brito D; Belo A; Cardim N; Int J Cardiol; 2019 Mar; 278():173-179. PubMed ID: 30554928 [TBL] [Abstract][Full Text] [Related]
7. Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy. SoRelle JA; Pascual JM; Gotway G; Park JY JAMA Netw Open; 2020 Apr; 3(4):e203812. PubMed ID: 32347949 [TBL] [Abstract][Full Text] [Related]
8. Sources of discordance among germ-line variant classifications in ClinVar. Yang S; Lincoln SE; Kobayashi Y; Nykamp K; Nussbaum RL; Topper S Genet Med; 2017 Oct; 19(10):1118-1126. PubMed ID: 28569743 [TBL] [Abstract][Full Text] [Related]
9. Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel. Morales A; Ing A; Antolik C; Austin-Tse C; Baudhuin LM; Bronicki L; Cirino A; Hawley MH; Fietz M; Garcia J; Ho C; Ingles J; Jarinova O; Johnston T; Kelly MA; Kurtz CL; Lebo M; Macaya D; Mahanta L; Maleszewski J; Manrai AK; Murray M; Richard G; Semsarian C; Thomson KL; Winder T; Ware JS; Hershberger RE; Funke BH; Vatta M; ; J Mol Diagn; 2021 May; 23(5):589-598. PubMed ID: 33631351 [TBL] [Abstract][Full Text] [Related]
10. Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar. Harrison SM; Dolinsky JS; Knight Johnson AE; Pesaran T; Azzariti DR; Bale S; Chao EC; Das S; Vincent L; Rehm HL Genet Med; 2017 Oct; 19(10):1096-1104. PubMed ID: 28301460 [TBL] [Abstract][Full Text] [Related]
11. Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach. Harrison SM; Dolinksy JS; Chen W; Collins CD; Das S; Deignan JL; Garber KB; Garcia J; Jarinova O; Knight Johnson AE; Koskenvuo JW; Lee H; Mao R; Mar-Heyming R; McFaddin AS; Moyer K; Nagan N; Rentas S; Santani AB; Seppälä EH; Shirts BH; Tidwell T; Topper S; Vincent LM; Vinette K; Rehm HL; Hum Mutat; 2018 Nov; 39(11):1641-1649. PubMed ID: 30311378 [TBL] [Abstract][Full Text] [Related]
12. Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy. Walsh R; Mazzarotto F; Whiffin N; Buchan R; Midwinter W; Wilk A; Li N; Felkin L; Ingold N; Govind R; Ahmad M; Mazaika E; Allouba M; Zhang X; de Marvao A; Day SM; Ashley E; Colan SD; Michels M; Pereira AC; Jacoby D; Ho CY; Thomson KL; Watkins H; Barton PJR; Olivotto I; Cook SA; Ware JS Genome Med; 2019 Jan; 11(1):5. PubMed ID: 30696458 [TBL] [Abstract][Full Text] [Related]
13. Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing. Burns C; Bagnall RD; Lam L; Semsarian C; Ingles J Circ Cardiovasc Genet; 2017 Aug; 10(4):. PubMed ID: 28790153 [TBL] [Abstract][Full Text] [Related]
14. Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy. Bagnall RD; Ingles J; Dinger ME; Cowley MJ; Ross SB; Minoche AE; Lal S; Turner C; Colley A; Rajagopalan S; Berman Y; Ronan A; Fatkin D; Semsarian C J Am Coll Cardiol; 2018 Jul; 72(4):419-429. PubMed ID: 30025578 [TBL] [Abstract][Full Text] [Related]
15. Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing. Balmaña J; Digiovanni L; Gaddam P; Walsh MF; Joseph V; Stadler ZK; Nathanson KL; Garber JE; Couch FJ; Offit K; Robson ME; Domchek SM J Clin Oncol; 2016 Dec; 34(34):4071-4078. PubMed ID: 27621404 [TBL] [Abstract][Full Text] [Related]
16. Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR). Lebo MS; Zakoor KR; Chun K; Speevak MD; Waye JS; McCready E; Parboosingh JS; Lamont RE; Feilotter H; Bosdet I; Tucker T; Young S; Karsan A; Charames GS; Agatep R; Spriggs EL; Chisholm C; Vasli N; Daoud H; Jarinova O; Tomaszewski R; Hume S; Taylor S; Akbari MR; Lerner-Ellis J; Genet Med; 2018 Mar; 20(3):294-302. PubMed ID: 28726806 [TBL] [Abstract][Full Text] [Related]
17. Genetic study of pediatric hypertrophic cardiomyopathy in Egypt. Darwish RK; Haghighi A; Seliem ZS; El-Saiedi SA; Radwan NH; El-Gayar DF; Elfeel NS; Abouelhoda M; Mehaney DA Cardiol Young; 2020 Dec; 30(12):1910-1916. PubMed ID: 33012304 [TBL] [Abstract][Full Text] [Related]
18. Prevalence and Clinical Implication of Double Mutations in Hypertrophic Cardiomyopathy: Revisiting the Gene-Dose Effect. Fourey D; Care M; Siminovitch KA; Weissler-Snir A; Hindieh W; Chan RH; Gollob MH; Rakowski H; Adler A Circ Cardiovasc Genet; 2017 Apr; 10(2):. PubMed ID: 28420666 [TBL] [Abstract][Full Text] [Related]
19. Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation. Tudini E; Andrews J; Lawrence DM; King-Smith SL; Baker N; Baxter L; Beilby J; Bennetts B; Beshay V; Black M; Boughtwood TF; Brion K; Cheong PL; Christie M; Christodoulou J; Chong B; Cox K; Davis MR; Dejong L; Dinger ME; Doig KD; Douglas E; Dubowsky A; Ellul M; Fellowes A; Fisk K; Fortuno C; Friend K; Gallagher RL; Gao S; Hackett E; Hadler J; Hipwell M; Ho G; Hollway G; Hooper AJ; Kassahn KS; Krishnaraj R; Lau C; Le H; San Leong H; Lundie B; Lunke S; Marty A; McPhillips M; Nguyen LT; Nones K; Palmer K; Pearson JV; Quinn MCJ; Rawlings LH; Sadedin S; Sanchez L; Schreiber AW; Sigalas E; Simsek A; Soubrier J; Stark Z; Thompson BA; U J; Vakulin CG; Wells AV; Wise CA; Woods R; Ziolkowski A; Brion MJ; Scott HS; Thorne NP; Spurdle AB; Am J Hum Genet; 2022 Nov; 109(11):1960-1973. PubMed ID: 36332611 [TBL] [Abstract][Full Text] [Related]
20. Clinical implications of conflicting variant interpretations in the cancer genetics clinic. Zukin E; Culver JO; Liu Y; Yang Y; Ricker CN; Hodan R; Sturgeon D; Kingham K; Chun NM; Rowe-Teeter C; Singh K; Zell JA; Ladabaum U; McDonnell KJ; Ford JM; Parmigiani G; Braun D; Kurian AW; Gruber SB; Idos GE Genet Med; 2023 Jul; 25(7):100837. PubMed ID: 37057674 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]